Uschi Lindert

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan et al. · Human Mutation · 2011 · 213 citations · Full text

Sclerostin, Genetics, Bone Repair +20

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat et al. · Nature Communications · 2016 · 141 citations · Full text

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner et al. · The American Journal of Human Genetics · 2016 · 116 citations · Full text

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

Tim Van Damme, Alain Colige, Delfien Syx et al. · Genetics in Medicine · 2016 · 50 citations · Full text

Metal-Responsive Transcription Factor 1 (MTF-1) Activity Is Regulated by a Nonconventional Nuclear Localization Signal and a Metal-Responsive Transactivation Domain

Uschi Lindert, Mirjam Cramer, Michael Meuli et al. · Molecular and Cellular Biology · 2009 · 49 citations · Full text

Activity Is, Molecular Biology, Epigenetics +19